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Biomedical subjects

C Faure

Publications and source records attributed to C Faure.

At least 73 records · Page 4Linked to original sources
PubMed1994

[Contribution of genetic typing for the diagnosis of familial adenomatous polyposis in pediatrics].

BACKGROUND: The gene responsible for familial adenomatous polyposis, (APC), has been recently cloned and genetic map with several polymorphic markers has been established. POPULATION AND METHODS: Blood samples (20 ml) were taken from 34 subjects belonging to four families at risk for familial adenomatous polyposis. Nineteen of these 34, less than 20 years old, had one parent having polyposis or dead because of it. Polyposis was diagnosed, in ten of these 19 by endoscopy. Genomic DNA was extracted from peripheral leukocytes and Southern blot analyses were performed in each family, using RFLPs on both sides of the APC locus. RESULTS: DNA analysis identified normal and mutant haplotypes at the APC locus in each family. It was thus possible to follow the segregation of mutant alleles. These results were compared with the anamnestic and endoscopic data. Bearing in mind the risk of recombination when using extragenic markers, RFLPs allowed early diagnosis of APC in pre and/or asymptomatic patients. CONCLUSIONS: Genetic analysis can be used to diagnose APC in affected families, provided the risk of recombination is taken into account. Intragenic microsatellites markers will soon be available. These will provide more information on the APC gene, and hence direct molecular diagnosis of APC.

Adenomatous Polyposis Coli↗
PubMed1993

Use of helper cells with two host ranges to generate high-titer retroviral vectors.

We have recently described Avian Leukosis Virus (ALV)-based packaging cell lines that can produce helper-free ALV-based retrovirus vectors with A, B, C, and E envelope host ranges. Here, we report that lacZ retroviral vectors of subgroup C or E can infect helper cells of subgroup A (Isolde) which are then able to produce high titers of lacZ recombinant viruses of subgroup A. Superinfection of helper cells by lacZ recombinant virus was performed by cocultivating packaging cells with two subgroup specificities (A and E), but this did not result in increased recombinant virus titers. This "ping-pong" process caused the emergence of replication-competent (RC) viruses which are shown to result from recombination between the viral sequences of the helper cell lines and the cis-acting sequences of the lacZ recombinant virus.

Avian Leukosis Virus↗
PubMed1993

Duodenal manometry in postobstructive enteropathy in infants with a transient enterostomy.

Intestinal motility was studied in 11 children with a transient enterostomy secondary to a neonatal organic small intestine obstruction (5 total colon Hirschsprung's disease, 2 necrotizing enterocolitis, 1 intussusception, 3 ileal atresia). Eight children presented with a postobstructive enteropathy (severe grade I [5], moderate grade II [3]) and three were considered as controls (grade III). They were assigned to one of the three groups on the basis of the duration of parenteral nutrition and constant rate enteral nutrition needed and the oral feeding tolerance. Barium small intestine transit showed no persistent partial obstruction or peritoneal adhesions. The abnormal inert marker transit times were statistically correlated with the clinical groups as well as duodenal manometric abnormalities. Manometric recordings were characterised by the absence (grade I) or abnormal phase III (grade II) of the migrating motor complex and decreased motility index (grades I and II). This study confirms that this enteropathy is due to a chronic alteration in motility induced by prenatal or postnatal obstructions.

Barium Sulfate↗
PubMed1993

[Congenital myasthenia with esophageal involvement].

BACKGROUND: Mild disorders associated with persistent neonatal myasthenia gravis may not be recognized for several months. Esophageal dysfunction in this type of myasthenia has never been studied. CASE REPORT: A gastroesophageal reflux was diagnosed during the first weeks of life in a girl; she was not treated. At 8 month-old, she was admitted for febrile convulsions; the pyrexia was due to urinary tract infection by Escherichia coli. 4 days later, the infant displayed weakness of the eyelids and extraocular muscles. The proximal muscles of the arms were also weak. Neostigmine, 0.3 mg subcutaneously, completely removed the symptoms in a few minutes. Neuromuscular transmission tests showed a progressive decrease in eyelid muscle response on repetitive stimulation of the nerve, with a pattern of post-synaptic defects that was corrected by edrophonium chloride injection. Neither the girl nor her mother had acetylcholine receptor antibodies. Overnight monitoring of the distal esophagus pH showed numerous episodes of acid reflux, essentially after the meal. Manometry disclosed abnormalities of both the striated and smooth muscles of the esophagus that were corrected with neostigmine. The girl was given neostigmine and was in good condition one year later. CONCLUSION: Myasthenia could worsen and/or trigger a gastroesophageal reflux by decreasing esophageal clearance and lower esophageal sphincter pressure.

Female↗
PubMed1992

Nasal mask ventilation in acute respiratory failure. Experience in elderly patients.

Nasal mask ventilation (NMV) has been used successfully in chronic restrictive respiratory failure and more recently in acute exacerbations of chronic obstructive pulmonary disease (COPD). This study aimed to evaluate the possible role of NMV in acute respiratory failure (ARF) episodes when mechanical ventilation with endotracheal intubation is questionable. Thirty patients (age, 76 +/- 8.1 years) were treated by NMV during ARF episodes (COPD, 20; other chronic respiratory failure [CRF], 5; chronic heart failure [CHF], 4). All patients were hypoxemic (PaO2, 5.85 +/- 1.62 kPa) and hypercapnic (PaCO2, 8.63 +/- 1.89 kPa) with respiratory acidosis (pH, 7.29 +/- 0.08). In all cases, clinical or physiologic parameters indicated the need for mechanical ventilation, but endotracheal intubation was either not applied because of the age and the physiologic condition of the patients (17 cases) or was postponed (13 cases). NMV was performed using a volume-cycled ventilator and a customized nasal mask. Ventilation was continuous during the first 12 hours and the following nights and was then intermittent during the day. Twenty-one patients improved clinically, within a few hours. Progressive correction of arterial blood gases was observed: PaO2 increased during the first hour, but PaCO2 decreased more slowly. Eighteen patients were able to be successfully weaned from NMV. Twelve patients failed to improve despite NMV: eight of them died and four required endotracheal intubation. There was no difference in the success rate between patients in whom endotracheal ventilation was contraindicated or postponed. Clinical tolerance was satisfactory in 23 patients and poor in seven patients. A return to the respiratory condition was observed in the surviving patients with subsequent discharge from hospital. NMV therefore successfully treated respiratory distress initially in 60 percent of the 30 patients. These results suggest that NMV could be a possible alternative in the treatment of ARF, even in very ill patients, when endotracheal ventilation is controversial or not immediately required.

Acute Disease↗
PubMed1992

[Chronic intestinal pseudo-obstruction and delayed myenteric ganglion cell maturation].

BACKGROUND: Enteric nerve cells begin to mature during the last trimester of pregnancy and become mature only after birth. The degree of maturation seems to be related to bowel motility. CASE REPORT: A girl was born from a pregnancy complicated by hydramnios, and did not pass meconium before the 64th hr of life. Barium enema on day 4 showed a left microcolon with no distension of the transverse colon. Tests for cystic fibrosis were negative. On day 12, the patient presented with septicemia due to Pseudomonas maltophylia. Parenteral alimentation by central catheter was instituted. Surgical rectal biopsy showed that the number of ganglion cells was normal but the cells were immature. Progressive feeding was possible for the 3rd month of life. A second rectal biopsy at 3 1/2 months showed some remaining immature ganglion cells. CONCLUSION: Immature ganglion cells can account for neonatal functional intestinal obstruction, as has been established for the small left colon syndrome. The progressive loss of symptoms seems to be correlated with histological maturation of the neurological apparatus of the large bowel. Severe complications, such as occlusion, sepsis, nutritional disorders can occur during this long period of functional intestinal obstruction.

Female↗
PubMed1991

Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children.

Three hundred and twenty-six French families with a cystic fibrosis-affected child who were referred for prenatal diagnosis were analysed by sibship size: 74.2 per cent of the couples had no further pregnancies to term after the affected child, who was deceased in 34.6 per cent of cases. These couples were followed prospectively after prenatal diagnosis and 77 had two or more consecutive pregnancies with prenatal diagnosis. The aim of these couples was to succeed in constituting a family with two normal children.

Alkaline Phosphatase↗
PubMed1991

Improvement of avian leukosis virus (ALV)-based retrovirus vectors by using different cis-acting sequences from ALVs.

Production and expression of double-expression vectors which transduce both Neo(r) and lacZ genes and are based on the structure of avian leukosis virus were enhanced by using cis-acting sequences (long terminal repeats and noncoding sequences) from Rous-associated virus-1 and Rous-associated virus-2 rather than those of avian erythroblastosis virus previously used in our constructs. Polyclonal producer cells obtained after transfection of these vectors into the Isolde packaging cell line gave rise to titers as high as 3 x 10(5) lacZ CFU/ml, whereas it was possible to isolate clones of producer cells giving rise to titers of more than 10(6) resistance focus-forming units per ml.

Animals↗
PubMed1991

[Three-dimensional rigidity of the Ilizarov external fixator (original and modified) implanted at the femur. Experimental study and clinical deductions].

The application of the Ilizarov device to the femur creates several problems: anatomical (transfixion of the thigh), mechanical (asymetrical assembly) and clinical (patient acceptability and duration of treatment). Geometric modifications of the original fixator are proposed. These comprise the use of threaded pins proximally and special connecting pieces. Two large fixators were tested under load and after the introduction of certain variables led the authors to experiment with 18 different assemblies. Four loads were used (compression, flexion in the sagittal and coronal planes and torsion) and stiffness calculated in three dimensions. Three linear and three angular displacements were defined for each type and magnitude of external load. The following sequence of analysis was followed to select the best type of assembly; increased ridigity in torsion; moderate displacement in flexion and axial elasticity. These considerations also apply to the mechanics of fracture healing. After testing under load it was concluded that the original assembly gave the best compromise. The modified assemblies gave a slightly inferior mechanical performance but their geometrical configuration should give better patient tolerance if the following items are used: a proximal arc of 120 degrees, 5 mm diameter threaded pins for the adult and 4 mm diameter for the child.

Biomechanical Phenomena↗
PubMed1991

[Osteosynthesis of forearm fractures using a P.C.D. "Small fragments" plate from A.O instruments. Apropos of 283 screwed plates].

The authors report the results of using 283 P.C.D. "petits fragments" plates by A.O. instruments, inserted between 1980 and 1989 for internal fixation of 207 forearm fractures. These included 97 double forearm fractures, 34 isolated ulnar fractures, 30 isolated radial fractures, 24 Monteggia fractures, 13 Galeazzi fractures and 9 pseudoarthroses of the radius or ulna. The mean delay to consolidation was 3.3 months with a range of 2 to 15 months. Complications included 1 hypertrophic callus of the ulna; 3 pseudoarthroses, 7 cases of sepsis (6 ulnar, 1 radius i.e. 2.5%); no plate ruptures occurred in this series. 125 plates were removed after consolidation (after 18 months); the fracture recurred in only one case where the plate was removed after 8 months. Results are based on 203 operated patients (4 lost to follow up). Before treatment of the complication, results showed 150 very good results (73.2%), 44 good results (21.5%) 1 moderate (0.5%) and 10 poor results (4.8%). After treatment of the complications there were 156 very good results (77%), 46 good results (22.5%) and 1 moderate result. In summary, forearm fractures are no longer a problem in traumatology. The P.C.D. "petits fragments" plate of A.O. instruments would appear to be particularly adapted and a bulkier implant (4.5 screw) is not required.

Adolescent↗
PubMed1990

Late and unusual intestinal features in cystic fibrosis-pseudotumoral intestinal wall thickening.

12 C.F. patients, 3 males and 9 females, aged 7 y to 36 y (mean 15 y) have had radiological studies of the G. I. tract, either by barium meal or barium enema, resulting in the following findings: - thickened mucosal folds of the duodenum in 2 cases, - a defect of the medial part of the caecum with or without propensity to intussusception, due to a large appendix with hypertrophic mucus glands in 7 cases; - tiny defects of the walls of the caecum and of the colon due to enlarged mucus glands in 5 cases, - a pseudotumoral thickening of the walls of the caecum and of the right colon, confirmed by CT and endoscopy in a woman aged 36 y. Several of these cases have been histologically confirmed either after surgery or by endoscopy. The lesions of the appendix with propensity to intussusception account for the intermittent colicky pains of these patients; radiological evaluation may result in eventual surgery.

Adolescent↗
PubMed1990

[Value of Illizarov's method in the treatment of long bone pseudarthrosis. Apropos of a A.S.A.M.I.F series of 87 cases].

This study is the outcome of multicenter endeavour compiling 87 cases of pseudoarthrosis managed according to principles set forth by G.A. Ilizarov. All clinical forms are described: simple pseudoarthrosis (non-infected and without loss of substance); septic pseudoarthrosis; pseudoarthrosis with loss of bone substance, both septic and aseptic. This method is used in the majority of cases. This method is used in the majority of cases after several consecutive unavailing attempts with conventional therapeutical procedures. Considering all situations, the lesions heal in over 90% of cases and the infection subsides with an equal rate of success. Such results are achieved within a period of 5 months. Sequelae or complications imputable to the method are few. Indications are specified, which depend upon the clinical form of the treated pseudoarthrosis, as well as upon the surgeon's personal skill.

Adolescent↗